ID:SYDM_HUMAN DESCRIPTION: RecName: Full=Aspartate--tRNA ligase, mitochondrial; EC=6.1.1.12; AltName: Full=Aspartyl-tRNA synthetase; Short=AspRS; Flags: Precursor; CATALYTIC ACTIVITY: ATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp). SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Mitochondrion matrix. DISEASE: Defects in DARS2 are a cause of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]. LBSL is an autosomal recessive disease and is defined on the basis of a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. Affected individuals develop slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. SIMILARITY: Belongs to the class-II aminoacyl-tRNA synthetase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DARS2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00152 - tRNA synthetases class II (D, K and N) PF01336 - OB-fold nucleic acid binding domain PF02938 - GAD domain
SCOP Domains: 101756 - Hypothetical protein YgiW 50249 - Nucleic acid-binding proteins 55681 - Class II aaRS and biotin synthetases 55261 - GAD domain-like
ModBase Predicted Comparative 3D Structure on Q6PI48
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.